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Bayside dad starts group to push rare disease tests

Steven Boswell wants to make sure that what happened to his son Max never happens to another child.

Max Boswell was a seemingly healthy 5-year-old in 1996 when he gradually lost his ability to walk and communicate. That year Max was diagnosed with adrenoleukodystrophy, or ALD, a rare genetic disease that strips away the insulation surrounding nerves in the brain and often leaves sufferers in a vegetative state.

That is why Steven Boswell, a Bayside resident, is starting Parents for Early Detection, a non-profit group with a mission of getting those in the helping professions to recognize the signs of genetic disorders and to expand the number of diseases for which newborn babies are screened.

“We’re talking about nationwide potentially thousands of kids being diagnosed early,” Boswell said.

Hospitals currently test newborns for a limited number of disorders, including HIV and metabolic diseases such as PKU, in which a certain type of amino acid accumulates in the body and causes brain damage.

Last month the state Health Department added cystic fibrosis and two other genetic conditions to the roster of diseases for which babies will be tested. All states are required to test newborns for certain disorders, although the number and type of of diseases vary from state to state.

Parents can also contract with private testing companies to run a whole battery of tests not mandated by the state.

“I just want parents to know there is a choice, that there are additional tests that can be requested which would give them a much more complete rundown,” he said.

ALD is passed from mother to son and affects boys only. Pediatric onset of the disease usually occurs between the ages of 4 and 10, but the disease can become active in a slightly different form in men, according to the ALD Foundation Web site, aldfoundation.org.

Although he said a blood test for ALD is still in the development stages, Boswell believes that if the medical personnel or teachers who saw Max’s deteriorating condition had recognized the boy’s withdrawal, slowness to respond and increasing clumsiness, it could have made a difference in his health.

“A lot of people are on the front lines, seeing children when the changes are starting,” said Boswell, who recently spoke about ALD to about 100 city Department of Education staff who work with special needs children.

“They’re not doctors, but they do need to know what’s out there so they can look for it,” he said.

Boswell would like his foundation to send parents of sick children to speak with hospital staff about the benefits of wide-ranging tests.

According to The Myelin Project, a non-profit organization that promotes research into ALD and other diseases, Lorenzo’s Oil, a combination of fats extracted from rapeseed and olive oil, can prevent the onset of the disease in some cases before symptoms occur.

Boys who have a sibling with ALD are typical candidates for treatment with Lorenzo’s Oil, according to Boswell.

He plans to form a board for his foundation, with the first meeting to be held in late February or early March once office space is found.

As for Max, he has lived at St. Mary’s Hospital for Children for the last six years and is set to participate in an ALD drug study at Massachusetts General Hospital in Boston this week.

To find out more about Parents for Early Detection, contact Steven Boswell at schasbo@msn.com.

Reach reporter Ayala Ben-Yehuda at timesledger@aol.com or call 1-718-229-0300, Ext. 146.

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